Exon 2 was disrupted by the insertion of a neomycin resistance gene 300 bp downstream of the translational start site. A functional portion of the N-terminal domain of the full length gene is expressed. (J:77686, J:270260)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count